MCID: ACQ016
MIFTS: 30

Acquired Pure Red Cell Aplasia

Categories: Blood diseases, Bone diseases, Immune diseases, Rare diseases

Aliases & Classifications for Acquired Pure Red Cell Aplasia

MalaCards integrated aliases for Acquired Pure Red Cell Aplasia:

Name: Acquired Pure Red Cell Aplasia 20 36
Adult Pure Red Cell Aplasia 20 58
Idiopathic Pure Red Cell Aplasia 20
Acquired Red Cell Aplasia 71
Acquired Prca 20

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

KEGG 36 H01586
ICD10 32 D60 D60.9
ICD10 via Orphanet 33 D60.0
Orphanet 58 ORPHA98872
UMLS 71 C0340961

Summaries for Acquired Pure Red Cell Aplasia

KEGG : 36 Pure red cell aplasia (PRCA) is a rare condition characterised by selective inhibition and the absence of red cell precursors in the bone marrow with consequent anaemia and reticulocytopenia in the presence of normal granulocytic and megakaryocytic lineages. RPCA can be classified into congenital and acquired. Congenital PRCA is also known as Diamond-Blackfan anemia [DS:H00237] and is a disease of infancy and early childhood. The aetiology of acquired PRCA can be subclassified into primary and secondary. Primary PRCA is defined when no aetiology can be identified using available investigations. The causes of secondary PRCA are again diverse and can be due to infections (viral, bacterial, etc.), drugs (erythropoietin, carbamazepine, etc.), collagen vascular disorders (rheumatoid arthritis, systemic lupus erythematosus, etc.), malignancies (e.g. thymoma), ABO-incompatible haematopoietic stem cell transplantation, and pregnancy. Depending on the cause, the course can be acute and self-limiting or chronic with rare spontaneous remissions. PRCA can be easily diagnosed when isolated anaemia, in the presence of normal white cell and platelet counts, is associated with a marrow of normal cellularity in which there is an almost complete absence of erythroblasts but normal myeloid cells and megakaryocytes. Primary, or secondary PRCA not responding to treatment of the underlying diseases, is treated as an immunologically-mediated disease. The therapeutic plan usually focuses on the sequential use of various immunosuppressive therapies until a remission is obtained.

MalaCards based summary : Acquired Pure Red Cell Aplasia, also known as adult pure red cell aplasia, is related to red cell aplasia and pure red-cell aplasia. An important gene associated with Acquired Pure Red Cell Aplasia is BCOR (BCL6 Corepressor), and among its related pathways/superpathways is Pathways Affected in Adenoid Cystic Carcinoma. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and thymus.

GARD : 20 Acquired pure red cell aplasia (PRCA) is a bone marrow disorder characterized by a reduction of red blood cells (erythrocytes) produced by the bone marrow. Signs and symptoms may include fatigue, lethargy, and/or abnormal paleness of the skin (pallor) due to the anemia the caused by the disorder. In most cases, the cause of acquired PRCA is unknown (idiopathic). In other cases it may occur secondary to autoimmune disorders, tumors of the thymus gland (thymomas), hematologic cancers, solid tumors, viral infections, or certain drugs. Treatment depends on the cause of the condition (if known) but often includes transfusions for individuals who are severely anemic and have cardiorespiratory failure.

Related Diseases for Acquired Pure Red Cell Aplasia

Diseases in the Pure Red-Cell Aplasia family:

Acquired Pure Red Cell Aplasia

Diseases related to Acquired Pure Red Cell Aplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 red cell aplasia 31.5 BCORL1 BCOR
2 pure red-cell aplasia 30.9 BCORL1 BCOR
3 transient erythroblastopenia of childhood 11.8
4 thymoma, familial 10.6
5 thymoma 10.6
6 thrombocytopenia 10.4
7 leukemia, chronic lymphocytic 10.3
8 chronic myelomonocytic leukemia 10.3
9 acquired amegakaryocytic thrombocytopenia 10.3
10 spondyloarthropathy 1 10.1
11 rheumatoid arthritis 10.1
12 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.1
13 myelofibrosis 10.1
14 coronary heart disease 1 10.1
15 graft-versus-host disease 10.1
16 immunodeficiency, common variable, 8, with autoimmunity 10.1
17 pulmonary aspergilloma 10.1
18 autoimmune polyendocrine syndrome type 1 10.1
19 inflammatory bowel disease 10.1
20 t-cell large granular lymphocyte leukemia 10.1
21 follicular lymphoma 10.1
22 mucositis 10.1
23 premature menopause 10.1
24 hypoparathyroidism 10.1
25 inflammatory spondylopathy 10.1
26 neutropenia 10.1
27 leukemia 10.1
28 diarrhea 10.1
29 autoimmune polyendocrine syndrome 10.1
30 hypothyroidism 10.1
31 thrombocytopenia due to platelet alloimmunization 10.1
32 purpura 10.1
33 kidney disease 10.1
34 hemolytic anemia 10.1
35 connective tissue disease 10.1
36 spondylitis 10.1
37 b-cell lymphoma 10.1
38 end stage renal disease 10.1
39 chronic kidney disease 10.1
40 herpes zoster 10.1
41 collagen disease 10.1
42 evans' syndrome 10.1
43 bronchiectasis 10.1
44 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.1
45 splenomegaly 10.1
46 large granular lymphocyte leukemia 10.1
47 thyroid carcinoma 10.1
48 systemic lupus erythematosus 10.1
49 b-cell expansion with nfkb and t-cell anergy 10.1
50 deficiency anemia 10.1

Graphical network of the top 20 diseases related to Acquired Pure Red Cell Aplasia:



Diseases related to Acquired Pure Red Cell Aplasia

Symptoms & Phenotypes for Acquired Pure Red Cell Aplasia

Drugs & Therapeutics for Acquired Pure Red Cell Aplasia

Drugs for Acquired Pure Red Cell Aplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
4 Antifungal Agents Phase 4
5 Immunosuppressive Agents Phase 4
6 Antibiotics, Antitubercular Phase 4
7 Anti-Infective Agents Phase 4
8 Immunologic Factors Phase 4
9 Antirheumatic Agents Phase 4
10 Dermatologic Agents Phase 4
11 Cyclosporins Phase 4
12 Anti-Bacterial Agents Phase 4
13 Calcineurin Inhibitors Phase 4
14
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
15
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
16
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
17 Gastrointestinal Agents Phase 2
18 Anti-Inflammatory Agents Phase 2
19 Hormones Phase 2
20 Hormone Antagonists Phase 2
21 glucocorticoids Phase 2
22 Antineoplastic Agents, Hormonal Phase 2
23 Antiemetics Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus Treatment for Newly Diagnosed Primary Acquired Pure Red Cell Aplasia: a Single Center Prospective Study Not yet recruiting NCT04470804 Phase 4 Sirolimus;Cyclosporine A
2 Safety and Efficacy of Bortezomib Plus Dexamethasone for Acquired Pure Red Cell Aplasia Failure or Relapse After First-line Treatment: A Prospective Phase II Trial Recruiting NCT04423367 Phase 2 bortezomib/dexamethasone

Search NIH Clinical Center for Acquired Pure Red Cell Aplasia

Genetic Tests for Acquired Pure Red Cell Aplasia

Anatomical Context for Acquired Pure Red Cell Aplasia

MalaCards organs/tissues related to Acquired Pure Red Cell Aplasia:

40
Bone Marrow, Myeloid, Thymus, T Cells, Kidney, Thyroid

Publications for Acquired Pure Red Cell Aplasia

Articles related to Acquired Pure Red Cell Aplasia:

(show top 50) (show all 127)
# Title Authors PMID Year
1
Acquired pure red cell aplasia and T cell large granular lymphocytic leukaemia in patients with autoimmune polyglandular syndrome type 1. 61
33468135 2021
2
Clonal hematopoiesis in adult pure red cell aplasia. 61
33500526 2021
3
Pure Red Cell Aplasia and Antibody-Mediated Rejection: Double Trouble in 1 Kidney Transplant Recipient Solved by Intravenous Immunoglobulin Infusion: A Case Report. 61
32276841 2020
4
Acquired Pure Red Cell Aplasia Associated with Chronic Myelomonocytic Leukemia: Too Many of One, Not Enough of the Other. 61
33250742 2020
5
Gene mutation profile in patients with acquired pure red cell aplasia. 61
32594217 2020
6
Acquired Pure Red Cell Aplasia Following Recombinant Erythropoietin (Darbepoetin-alfa) Therapy. 61
32269436 2020
7
Immunosuppressive therapy for elderly-acquired pure red cell aplasia: cyclosporine A may be more effective. 61
31970447 2020
8
[Chinese expert consensus on the diagnosis and treatment of acquired pure red cell aplasia (2020)]. 61
32311886 2020
9
Acquired Pure Red Cell Aplasia. 61
31979930 2020
10
Isoniazid Induced Acquired Pure Red Cell Aplasia: A Rare Case Report. 61
31979924 2020
11
[Recent progress in the diagnosis and management of acquired pure red cell aplasia]. 61
33162504 2020
12
Effective treatment of refractory acquired pure red blood cell aplasia with eltrombopag and sirolimus: a case report. 61
32733663 2020
13
Allogeneic stem cell transplantation for acquired pure red cell aplasia. 61
31396977 2019
14
Acquired Pure Red Cell Aplasia and Acquired Amegakaryocytic Thrombocytopenia Associated With Clonal Expansion of T-Cell Large Granular Lymphocytes in a Patient With Lipopolysaccharide-responsive Beige-like Anchor (LRBA) Protein Deficiency. 61
30188351 2019
15
Induced complete remission faster in adult patients with acquired pure red cell aplasia by combining cyclosporine A with corticosteroids. 61
31593095 2019
16
Acquired pure red cell aplasia in a patient with ankylosing spondylitis- a case report and literature review. 61
31277118 2019
17
Successful treatment of refractory/relapsed acquired pure red cell aplasia with sirolimus. 61
29982851 2018
18
Frequent STAT3 mutations in CD8+ T cells from patients with pure red cell aplasia. 61
30337298 2018
19
The clinical characteristics and therapy response of patients with acquired pure red cell aplasia. 61
29754581 2018
20
Response to cyclosporine A and corticosteroids in adult patients with acquired pure red cell aplasia: serial experience at a single center. 61
29589280 2018
21
Identification of mutations in patients with acquired pure red cell aplasia. 61
29767669 2018
22
Rational management approach to pure red cell aplasia. 61
29217782 2018
23
Successful treatment of tacrolimus-related pure red cell aplasia and autoimmune hemolytic anemia with rituximab in a pediatric cardiac transplant patient. 61
28598573 2017
24
[Clinical analysis of 32 patients with acquired pure red cell aplasia]. 61
29224325 2017
25
Successful high-dose dexamethasone treatment of acquired pure red cell aplasia following ABO major mismatched allogeneic hematopoietic stem cell transplantation. 61
27384857 2016
26
Cyclosporine restores hematopoietic function by compensating for decreased Tregs in patients with pure red cell aplasia and acquired aplastic anemia. 61
26968551 2016
27
[Acquired pure red cell aplasia in a patient with B cell chronic lymphocytic leukemia after fludarabine therapy]. 61
26256883 2015
28
[Chinese expert consensus on the treatment and diagnosis of acquired pure red cell aplasia (2015)]. 61
26031519 2015
29
[Integration of Internal and Clinical Laboratory Medicine]. 61
26524863 2015
30
Acquired pure red cell aplasia in a patient of rheumatoid arthritis. 61
25332592 2014
31
[Clinical assessment of CD4/8 ratio of bone marrow lymphocytes in acquired pure red cell aplasia]. 61
24975341 2014
32
Recurrent severe anaemia: a rare presentation of parvovirus b19 infection. 61
24959472 2014
33
Alemtuzumab plus cyclosporine treatment of the autoimmune hemolytic anemia in an adult bowel transplant. 61
25177510 2014
34
Acquired pure red cell aplasia due to treatment with clopidogrel: first case report. 61
24297264 2014
35
Low-dose subcutaneous alemtuzumab is a safe and effective treatment for chronic acquired pure red cell aplasia. 61
24310664 2013
36
Successful treatment of acquired pure red cell aplasia with oral corticosteroids in a patient with B-cell CLL. 61
24234432 2013
37
Acquired pure red cell aplasia due to anti-erythropoietin antibodies in a patient with end stage chronic kidney disease. 61
23817942 2013
38
[The pure red cell aplasia in children (observation 2010-2012 years)]. 61
23567308 2013
39
CDR3-independent expansion of Vδ1 T lymphocytes in acquired chronic pure red cell aplasia. 61
23274961 2013
40
Treatment of pure red-cell aplasia with cyclosporine in a renal transplant patient. 61
22891934 2013
41
Acquired Pure Red Cell Aplasia caused by Parvovirus B19 Infection following a Renal Transplant. 61
21969904 2011
42
Pure red cell aplasia caused by parvovirus B19 in two patients without chronic hemolysis. 61
20820839 2011
43
[Myelodysplastic syndrome with erythroblastopenia]. 61
20801559 2011
44
First case report of acquired pure red cell aplasia associated with micafungin. 61
21532231 2011
45
Pure red-cell aplasia as the presenting feature of the carcionoid tumor of the thymus: case report. 61
19224408 2010
46
Immunosuppressive treatment in patient with pure red cell aplasia associated with chronic myelomonocytic leukemia: harm or benefit? 61
19760482 2009
47
Pure red cell aplasia as first manifestation of splenic marginal zone lymphoma-successful treatment with rituximab: a case report. 61
19918496 2009
48
Diagnosis and management of acquired pure red cell aplasia. 61
19327582 2009
49
Acquired pure red cell aplasia associated with malignant lymphomas: a nationwide cohort study in Japan for the PRCA Collaborative Study Group. 61
19195037 2009
50
Rituximab to treat chronic lymphoproliferative disorder-associated pure red cell aplasia. 61
19067738 2009

Variations for Acquired Pure Red Cell Aplasia

Expression for Acquired Pure Red Cell Aplasia

Search GEO for disease gene expression data for Acquired Pure Red Cell Aplasia.

Pathways for Acquired Pure Red Cell Aplasia

Pathways related to Acquired Pure Red Cell Aplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 BCORL1 BCOR

GO Terms for Acquired Pure Red Cell Aplasia

Biological processes related to Acquired Pure Red Cell Aplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 8.62 BCORL1 BCOR

Sources for Acquired Pure Red Cell Aplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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